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rs1057517210

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517210(A;A)
Make rs1057517210(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position71439084
GeneDHCR7
is asnp
is mentioned by
dbSNPrs1057517210
dbSNP (old)rs1057517210
ClinGenrs1057517210
ebirs1057517210
HLIrs1057517210
Exacrs1057517210
Gnomadrs1057517210
Varsomers1057517210
Maprs1057517210
PheGenIrs1057517210
Biobankrs1057517210
1000 genomesrs1057517210
hgdprs1057517210
ensemblrs1057517210
gopubmedrs1057517210
geneviewrs1057517210
scholarrs1057517210
googlers1057517210
pharmgkbrs1057517210
gwascentralrs1057517210
openSNPrs1057517210
23andMers1057517210
23andMe allrs1057517210
SNPshotrs1057517210
SNPdbers1057517210
MSV3drs1057517210
GWAS Ctlgrs1057517210
Max Magnitude0
ClinVar
Risk rs1057517210(A;A)
Alt rs1057517210(A;A)
Reference Rs1057517210(G;G)
Significance Probable-Pathogenic
Disease Smith-Lemli-Opitz syndrome
Variation info
Gene DHCR7
CLNDBN Smith-Lemli-Opitz syndrome
Reversed 1
HGVS NC_000011.9:g.71150130C>T
CLNSRC
CLNACC RCV000411331.1,